Incidental Mutation 'R4664:Cic'
| ID |
353098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cic
|
| Ensembl Gene |
ENSMUSG00000005442 |
| Gene Name |
capicua transcriptional repressor |
| Synonyms |
1200010B10Rik |
| MMRRC Submission |
041922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R4664 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24967129-24993584 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (3 aa in frame mutation) |
| DNA Base Change (assembly) |
TGTTGCCCTC to T
at 24990099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005578]
[ENSMUST00000005583]
[ENSMUST00000108410]
[ENSMUST00000148150]
[ENSMUST00000163320]
[ENSMUST00000165239]
[ENSMUST00000169266]
[ENSMUST00000164820]
|
| AlphaFold |
Q924A2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005578
|
| SMART Domains |
Protein: ENSMUSP00000005578
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J2L|D
|
21 |
48 |
6e-12 |
PDB |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
HMG
|
199 |
269 |
1.24e-17 |
SMART |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1155 |
N/A |
INTRINSIC |
|
low complexity region
|
1223 |
1253 |
N/A |
INTRINSIC |
|
low complexity region
|
1280 |
1313 |
N/A |
INTRINSIC |
|
low complexity region
|
1405 |
1418 |
N/A |
INTRINSIC |
|
low complexity region
|
1483 |
1494 |
N/A |
INTRINSIC |
|
low complexity region
|
1524 |
1547 |
N/A |
INTRINSIC |
|
low complexity region
|
1568 |
1603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005583
|
| SMART Domains |
Protein: ENSMUSP00000005583
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
12 |
203 |
3.8e-13 |
PFAM |
|
Pfam:Lipase_GDSL
|
42 |
209 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108410
|
| SMART Domains |
Protein: ENSMUSP00000104048
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
4 |
151 |
1.2e-23 |
PFAM |
|
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140093
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148150
|
| SMART Domains |
Protein: ENSMUSP00000121250
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
43 |
143 |
5.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163320
|
| SMART Domains |
Protein: ENSMUSP00000126659
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J2L|D
|
21 |
48 |
6e-12 |
PDB |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
HMG
|
199 |
269 |
1.24e-17 |
SMART |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
1064 |
1079 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1154 |
N/A |
INTRINSIC |
|
low complexity region
|
1222 |
1252 |
N/A |
INTRINSIC |
|
low complexity region
|
1279 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1405 |
1418 |
N/A |
INTRINSIC |
|
low complexity region
|
1483 |
1494 |
N/A |
INTRINSIC |
|
low complexity region
|
1524 |
1547 |
N/A |
INTRINSIC |
|
low complexity region
|
1568 |
1603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163901
|
| SMART Domains |
Protein: ENSMUSP00000127858
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165239
|
| SMART Domains |
Protein: ENSMUSP00000128071
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J2L|D
|
21 |
48 |
5e-12 |
PDB |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
HMG
|
199 |
269 |
1.24e-17 |
SMART |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169266
|
| SMART Domains |
Protein: ENSMUSP00000132351
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
|
Pfam:DUF4819
|
249 |
346 |
1.8e-23 |
PFAM |
|
low complexity region
|
351 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
858 |
883 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
911 |
N/A |
INTRINSIC |
|
PDB:4J2L|D
|
930 |
955 |
5e-10 |
PDB |
|
low complexity region
|
1013 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1045 |
N/A |
INTRINSIC |
|
HMG
|
1106 |
1176 |
1.24e-17 |
SMART |
|
low complexity region
|
1322 |
1338 |
N/A |
INTRINSIC |
|
low complexity region
|
1380 |
1393 |
N/A |
INTRINSIC |
|
low complexity region
|
1415 |
1428 |
N/A |
INTRINSIC |
|
low complexity region
|
1432 |
1462 |
N/A |
INTRINSIC |
|
low complexity region
|
1474 |
1490 |
N/A |
INTRINSIC |
|
low complexity region
|
1552 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1636 |
1647 |
N/A |
INTRINSIC |
|
low complexity region
|
1689 |
1710 |
N/A |
INTRINSIC |
|
low complexity region
|
1744 |
1766 |
N/A |
INTRINSIC |
|
low complexity region
|
1846 |
1858 |
N/A |
INTRINSIC |
|
low complexity region
|
1971 |
1986 |
N/A |
INTRINSIC |
|
low complexity region
|
2024 |
2038 |
N/A |
INTRINSIC |
|
low complexity region
|
2041 |
2061 |
N/A |
INTRINSIC |
|
low complexity region
|
2129 |
2159 |
N/A |
INTRINSIC |
|
low complexity region
|
2186 |
2219 |
N/A |
INTRINSIC |
|
low complexity region
|
2311 |
2324 |
N/A |
INTRINSIC |
|
low complexity region
|
2389 |
2400 |
N/A |
INTRINSIC |
|
low complexity region
|
2430 |
2453 |
N/A |
INTRINSIC |
|
low complexity region
|
2474 |
2509 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167162
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164820
|
| SMART Domains |
Protein: ENSMUSP00000130146
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (110/115) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit partial postnatal lethality, decreased body size, and severe lung alveolarization defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(61) : Targeted, other(4) Gene trapped(57)
|
| Other mutations in this stock |
Total: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano2 |
A |
G |
6: 125,840,501 (GRCm39) |
I391V |
probably benign |
Het |
| Apc |
T |
A |
18: 34,431,647 (GRCm39) |
L349M |
probably damaging |
Het |
| Atmin |
A |
G |
8: 117,684,698 (GRCm39) |
D786G |
probably damaging |
Het |
| Atp8a1 |
T |
A |
5: 67,919,929 (GRCm39) |
D379V |
possibly damaging |
Het |
| Aurkb |
A |
G |
11: 68,939,435 (GRCm39) |
K173E |
probably damaging |
Het |
| Bak1 |
T |
C |
17: 27,241,510 (GRCm39) |
I83V |
possibly damaging |
Het |
| Btbd17 |
A |
C |
11: 114,684,832 (GRCm39) |
V69G |
probably damaging |
Het |
| Cacna1a |
T |
A |
8: 85,328,396 (GRCm39) |
Y1597* |
probably null |
Het |
| Camk2a |
C |
A |
18: 61,088,696 (GRCm39) |
Q167K |
possibly damaging |
Het |
| Capn1 |
A |
T |
19: 6,061,045 (GRCm39) |
N253K |
probably benign |
Het |
| Ccer2 |
A |
G |
7: 28,455,928 (GRCm39) |
E40G |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,972,130 (GRCm39) |
T527A |
probably damaging |
Het |
| Cdkl2 |
T |
C |
5: 92,185,124 (GRCm39) |
D89G |
probably damaging |
Het |
| Cep128 |
G |
T |
12: 91,263,027 (GRCm39) |
R291S |
probably damaging |
Het |
| Cert1 |
T |
C |
13: 96,735,965 (GRCm39) |
V175A |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,078,465 (GRCm39) |
M203V |
possibly damaging |
Het |
| Chrna4 |
A |
G |
2: 180,679,286 (GRCm39) |
S54P |
probably damaging |
Het |
| Cntn5 |
T |
A |
9: 10,144,214 (GRCm39) |
I152L |
possibly damaging |
Het |
| Cntn6 |
A |
G |
6: 104,705,245 (GRCm39) |
E154G |
probably benign |
Het |
| Col16a1 |
A |
C |
4: 129,955,883 (GRCm39) |
|
probably benign |
Het |
| Cpvl |
C |
T |
6: 53,908,918 (GRCm39) |
E282K |
probably benign |
Het |
| Cyth2 |
T |
C |
7: 45,460,143 (GRCm39) |
D183G |
probably damaging |
Het |
| Ddx47 |
A |
T |
6: 134,989,319 (GRCm39) |
T48S |
possibly damaging |
Het |
| Dgkk |
A |
G |
X: 6,794,751 (GRCm39) |
D685G |
probably benign |
Het |
| Dis3l |
C |
T |
9: 64,238,080 (GRCm39) |
S29N |
unknown |
Het |
| Dlg5 |
T |
C |
14: 24,187,249 (GRCm39) |
H1834R |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,905,536 (GRCm39) |
M4060T |
possibly damaging |
Het |
| Dock3 |
T |
A |
9: 106,870,743 (GRCm39) |
N557I |
possibly damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,219,831 (GRCm39) |
E37G |
probably damaging |
Het |
| Eprs1 |
A |
T |
1: 185,105,273 (GRCm39) |
|
probably benign |
Het |
| Faim2 |
C |
A |
15: 99,422,581 (GRCm39) |
|
probably null |
Het |
| Faim2 |
T |
G |
15: 99,422,582 (GRCm39) |
S72R |
probably benign |
Het |
| Fanca |
T |
C |
8: 123,995,711 (GRCm39) |
T1364A |
probably damaging |
Het |
| Fance |
T |
C |
17: 28,534,636 (GRCm39) |
|
probably benign |
Het |
| Farsb |
A |
T |
1: 78,420,402 (GRCm39) |
H496Q |
possibly damaging |
Het |
| Fryl |
C |
T |
5: 73,248,022 (GRCm39) |
E1032K |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,814,808 (GRCm39) |
|
probably benign |
Het |
| Gba2 |
A |
T |
4: 43,568,619 (GRCm39) |
|
probably benign |
Het |
| Gjb4 |
C |
A |
4: 127,245,571 (GRCm39) |
K123N |
probably damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,709,980 (GRCm39) |
T56I |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,412,756 (GRCm39) |
E55V |
probably damaging |
Het |
| Gtpbp2 |
T |
C |
17: 46,472,080 (GRCm39) |
V5A |
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,044,486 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,532 (GRCm39) |
S264G |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,227,152 (GRCm39) |
M574V |
probably benign |
Het |
| Kif4-ps |
G |
A |
12: 101,115,477 (GRCm39) |
|
noncoding transcript |
Het |
| Klhl14 |
A |
T |
18: 21,687,765 (GRCm39) |
N552K |
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,609,799 (GRCm39) |
E528G |
probably damaging |
Het |
| Lactb2 |
T |
C |
1: 13,717,624 (GRCm39) |
E133G |
probably damaging |
Het |
| Lratd2 |
A |
T |
15: 60,695,478 (GRCm39) |
D89E |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,347,310 (GRCm39) |
|
probably null |
Het |
| Mab21l2 |
T |
A |
3: 86,454,811 (GRCm39) |
Y63F |
probably benign |
Het |
| Mbd1 |
T |
A |
18: 74,402,597 (GRCm39) |
I33N |
possibly damaging |
Het |
| Mertk |
G |
A |
2: 128,643,132 (GRCm39) |
V844M |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,044,448 (GRCm39) |
T652A |
possibly damaging |
Het |
| Nlrp4a |
C |
A |
7: 26,148,943 (GRCm39) |
Y183* |
probably null |
Het |
| Noa1 |
T |
A |
5: 77,447,600 (GRCm39) |
T558S |
probably benign |
Het |
| Nol11 |
A |
T |
11: 107,071,826 (GRCm39) |
S256T |
possibly damaging |
Het |
| Nr1d1 |
G |
T |
11: 98,662,086 (GRCm39) |
R183S |
possibly damaging |
Het |
| Nrg2 |
G |
T |
18: 36,185,948 (GRCm39) |
Q264K |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,188,894 (GRCm39) |
F1027I |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,110,847 (GRCm39) |
I285F |
probably damaging |
Het |
| Obox8 |
T |
C |
7: 14,066,771 (GRCm39) |
N91S |
possibly damaging |
Het |
| Oga |
T |
C |
19: 45,760,384 (GRCm39) |
E258G |
probably benign |
Het |
| Orc5 |
C |
T |
5: 22,751,520 (GRCm39) |
S63N |
probably benign |
Het |
| Osbpl6 |
C |
T |
2: 76,398,552 (GRCm39) |
T412I |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,563 (GRCm39) |
C308Y |
probably damaging |
Het |
| Pacsin1 |
T |
C |
17: 27,926,038 (GRCm39) |
F127L |
probably damaging |
Het |
| Pex11b |
T |
C |
3: 96,551,151 (GRCm39) |
L198P |
possibly damaging |
Het |
| Pla2g4e |
A |
T |
2: 120,001,669 (GRCm39) |
V660E |
probably damaging |
Het |
| Plxna4 |
C |
A |
6: 32,493,885 (GRCm39) |
V244F |
possibly damaging |
Het |
| Polr3b |
A |
G |
10: 84,550,233 (GRCm39) |
Y981C |
probably damaging |
Het |
| Popdc2 |
T |
A |
16: 38,194,649 (GRCm39) |
S357T |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,159 (GRCm39) |
H58R |
probably damaging |
Het |
| Pyy |
T |
A |
11: 101,998,178 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rasd2 |
T |
C |
8: 75,948,556 (GRCm39) |
S161P |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,826,900 (GRCm39) |
|
probably benign |
Het |
| Sectm1a |
G |
A |
11: 120,960,552 (GRCm39) |
R88C |
possibly damaging |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Siglecf |
A |
T |
7: 43,005,837 (GRCm39) |
I465F |
possibly damaging |
Het |
| Sorl1 |
A |
T |
9: 41,915,347 (GRCm39) |
M1294K |
probably damaging |
Het |
| Spam1 |
A |
T |
6: 24,796,661 (GRCm39) |
H204L |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,450,468 (GRCm39) |
N2586Y |
possibly damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,700,263 (GRCm39) |
|
probably benign |
Het |
| Tceanc2 |
A |
T |
4: 107,022,757 (GRCm39) |
S77T |
probably damaging |
Het |
| Tedc2 |
A |
G |
17: 24,439,114 (GRCm39) |
|
probably benign |
Het |
| Tgm6 |
A |
G |
2: 129,979,314 (GRCm39) |
D148G |
probably benign |
Het |
| Tgm6 |
A |
T |
2: 129,983,128 (GRCm39) |
Q239L |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,337,313 (GRCm39) |
T1235S |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,504,012 (GRCm39) |
I381F |
possibly damaging |
Het |
| Tmc4 |
T |
C |
7: 3,674,270 (GRCm39) |
|
probably null |
Het |
| Tmem54 |
A |
T |
4: 129,004,704 (GRCm39) |
E186D |
possibly damaging |
Het |
| Tpk1 |
A |
T |
6: 43,588,269 (GRCm39) |
F32I |
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,514,917 (GRCm39) |
I97T |
probably benign |
Het |
| Tut7 |
G |
A |
13: 59,948,413 (GRCm39) |
T636I |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,942 (GRCm39) |
E591G |
probably damaging |
Het |
| Tyk2 |
C |
T |
9: 21,025,503 (GRCm39) |
A741T |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,133,829 (GRCm39) |
E742K |
possibly damaging |
Het |
| Uckl1 |
A |
T |
2: 181,216,661 (GRCm39) |
S95T |
possibly damaging |
Het |
| Uevld |
T |
A |
7: 46,587,734 (GRCm39) |
D322V |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
G |
T |
18: 3,123,300 (GRCm39) |
T38K |
probably damaging |
Het |
| Vps8 |
T |
A |
16: 21,262,938 (GRCm39) |
|
probably null |
Het |
| Wdr83 |
T |
C |
8: 85,806,680 (GRCm39) |
|
probably benign |
Het |
| Zfp619 |
A |
G |
7: 39,183,559 (GRCm39) |
T51A |
probably benign |
Het |
|
| Other mutations in Cic |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Cic
|
APN |
7 |
24,991,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01668:Cic
|
APN |
7 |
24,990,629 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02229:Cic
|
APN |
7 |
24,990,375 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02506:Cic
|
APN |
7 |
24,990,282 (GRCm39) |
missense |
probably benign |
|
|
IGL02794:Cic
|
APN |
7 |
24,985,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Cic
|
APN |
7 |
24,985,246 (GRCm39) |
splice site |
probably benign |
|
|
IGL03304:Cic
|
APN |
7 |
24,984,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Capuccino
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Cassock
|
UTSW |
7 |
24,988,338 (GRCm39) |
nonsense |
probably null |
|
|
Monkey
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850_Cic_466
|
UTSW |
7 |
24,972,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
1mM(1):Cic
|
UTSW |
7 |
24,990,214 (GRCm39) |
splice site |
probably benign |
|
|
IGL03046:Cic
|
UTSW |
7 |
24,990,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0027:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0038:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0063:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0064:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0118:Cic
|
UTSW |
7 |
24,985,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0241:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0377:Cic
|
UTSW |
7 |
24,985,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0462:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0462:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0800:Cic
|
UTSW |
7 |
24,984,662 (GRCm39) |
missense |
probably benign |
|
|
R1253:Cic
|
UTSW |
7 |
24,990,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Cic
|
UTSW |
7 |
24,979,162 (GRCm39) |
intron |
probably benign |
|
|
R1462:Cic
|
UTSW |
7 |
24,971,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1462:Cic
|
UTSW |
7 |
24,971,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1519:Cic
|
UTSW |
7 |
24,993,235 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1586:Cic
|
UTSW |
7 |
24,985,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Cic
|
UTSW |
7 |
24,987,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Cic
|
UTSW |
7 |
24,986,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Cic
|
UTSW |
7 |
24,970,961 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2063:Cic
|
UTSW |
7 |
24,972,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2161:Cic
|
UTSW |
7 |
24,987,559 (GRCm39) |
splice site |
probably null |
|
|
R2495:Cic
|
UTSW |
7 |
24,991,201 (GRCm39) |
splice site |
probably benign |
|
|
R2865:Cic
|
UTSW |
7 |
24,972,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3692:Cic
|
UTSW |
7 |
24,988,338 (GRCm39) |
nonsense |
probably null |
|
|
R3709:Cic
|
UTSW |
7 |
24,986,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3710:Cic
|
UTSW |
7 |
24,986,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3872:Cic
|
UTSW |
7 |
24,971,124 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3946:Cic
|
UTSW |
7 |
24,971,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4199:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
frame shift |
probably null |
|
|
R4426:Cic
|
UTSW |
7 |
24,993,433 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4502:Cic
|
UTSW |
7 |
24,987,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Cic
|
UTSW |
7 |
24,972,203 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4586:Cic
|
UTSW |
7 |
24,972,203 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4614:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
frame shift |
probably null |
|
|
R4688:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
frame shift |
probably null |
|
|
R4695:Cic
|
UTSW |
7 |
24,973,013 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4696:Cic
|
UTSW |
7 |
24,987,908 (GRCm39) |
missense |
probably benign |
|
|
R4746:Cic
|
UTSW |
7 |
24,987,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Cic
|
UTSW |
7 |
24,991,636 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4767:Cic
|
UTSW |
7 |
24,971,025 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4776:Cic
|
UTSW |
7 |
24,982,308 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4820:Cic
|
UTSW |
7 |
24,971,157 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4850:Cic
|
UTSW |
7 |
24,972,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4851:Cic
|
UTSW |
7 |
24,972,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4922:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
small insertion |
probably benign |
|
|
R4989:Cic
|
UTSW |
7 |
24,986,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5131:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
small insertion |
probably benign |
|
|
R5718:Cic
|
UTSW |
7 |
24,972,203 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5801:Cic
|
UTSW |
7 |
24,970,863 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5949:Cic
|
UTSW |
7 |
24,971,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Cic
|
UTSW |
7 |
24,971,423 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6246:Cic
|
UTSW |
7 |
24,971,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6283:Cic
|
UTSW |
7 |
24,985,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Cic
|
UTSW |
7 |
24,972,248 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6481:Cic
|
UTSW |
7 |
24,987,706 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6919:Cic
|
UTSW |
7 |
24,971,202 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6920:Cic
|
UTSW |
7 |
24,990,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Cic
|
UTSW |
7 |
24,970,736 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7002:Cic
|
UTSW |
7 |
24,971,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7113:Cic
|
UTSW |
7 |
24,972,869 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7560:Cic
|
UTSW |
7 |
24,972,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7680:Cic
|
UTSW |
7 |
24,991,856 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7698:Cic
|
UTSW |
7 |
24,972,597 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7746:Cic
|
UTSW |
7 |
24,988,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Cic
|
UTSW |
7 |
24,985,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Cic
|
UTSW |
7 |
24,984,551 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7916:Cic
|
UTSW |
7 |
24,987,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7920:Cic
|
UTSW |
7 |
24,971,384 (GRCm39) |
missense |
probably benign |
|
|
R8056:Cic
|
UTSW |
7 |
24,990,366 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8226:Cic
|
UTSW |
7 |
24,987,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8281:Cic
|
UTSW |
7 |
24,971,249 (GRCm39) |
missense |
probably benign |
|
|
R8847:Cic
|
UTSW |
7 |
24,970,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8991:Cic
|
UTSW |
7 |
24,988,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9083:Cic
|
UTSW |
7 |
24,985,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9140:Cic
|
UTSW |
7 |
24,985,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9200:Cic
|
UTSW |
7 |
24,971,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9208:Cic
|
UTSW |
7 |
24,987,502 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9301:Cic
|
UTSW |
7 |
24,991,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Cic
|
UTSW |
7 |
24,971,414 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9569:Cic
|
UTSW |
7 |
24,972,120 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9752:Cic
|
UTSW |
7 |
24,971,403 (GRCm39) |
missense |
probably damaging |
0.96 |
|
V7732:Cic
|
UTSW |
7 |
24,991,670 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cic
|
UTSW |
7 |
24,970,444 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGCCTGGCCTATAGTGTAG -3'
(R):5'- TGAGGTCACTGTTCCAGTCTG -3'
Sequencing Primer
(F):5'- TTATCCAGCTGACTCCTG -3'
(R):5'- TCTGACTGCATGCAGAACTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation